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. 2022 Aug 19;19(16):10366.
doi: 10.3390/ijerph191610366.

Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain

Cristina Gimenez-Lozano  1 , Lucía Páramo-Rodríguez  2 , Clara Cavero-Carbonell  2 , Francisca Corpas-Burgos  3 , Aurora López-Maside  4 , Sandra Guardiola-Vilarroig  4 , Oscar Zurriaga  2   4   5
Affiliations

Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain

Cristina Gimenez-Lozano et al. Int J Environ Res Public Health. .

Abstract

Families with rare diseases (RDs) have unmet needs that are often overlooked by health professionals. Describing these needs and the impact of the disease could improve their medical care. A total of 163 surveys were obtained from patients visiting primary care centres in the Valencian Region (Spain), during 2015-2017, with a confirmed or suspected diagnosis of RD. Of the 84.7% with a confirmed diagnosis, 50.4% had a diagnostic delay exceeding one year, and it was more prevalent among adults (62.2%). Families with paediatric patients were in a worse economic situation, with lower incomes and higher monthly disease-related expenses (€300 on average). These expenses were incurred by 66.5% of families and were mainly for medication (40.3%). Among them, 58.5% reported not being able to afford adjuvant therapies. The disease had an impact on 73.1% of families, especially on their routine and emotional state. Expenses, needs, and impacts were more frequent among families of patients with a history of hospitalisation or deterioration. Patients with delayed diagnosis had a higher consumption of drugs prior to diagnosis. People affected by RDs in the Valencian Region need therapies to improve their autonomy and emotional state. Health professionals should be aware of these needs.

Keywords: Spain; diagnostic delay; primary care; rare diseases; unmet needs.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 4
Figure 4
Percentage of households with disease-related expenses.
Figure 1
Figure 1
Distribution of patients by sex and age group.
Figure 2
Figure 2
Diseases by ICD10-ES diagnostic group and patient type.
Figure 3
Figure 3
Types of treatment before and after diagnosis.
Figure 5
Figure 5
Unmet needs.
Figure 6
Figure 6
Emotional and social impact as a function of perceived cause.
See this image and copyright information in PMC

References

    1. Heuyer T., Pavan S., Vicard C. The health and life path of rare disease patients: Results of the 2015 French barometer. Patient Relat. Outcome Meas. 2017;8:97–110. doi: 10.2147/PROM.S131033. - DOI - PMC - PubMed
    1. Orlando V., Mucherino S., Guarino I., Guerriero F., Trama U., Menditto E. Gender Differences in Medication Use: A Drug Utilization Study Based on Real World Data. Int. J. Environ. Res. Public Health. 2020;17:3926. doi: 10.3390/ijerph17113926. - DOI - PMC - PubMed
    1. Wortmann J.K., Bremer A., Eich H., Wortmann H.K., Schuster A., Fühner J., Büntzel J., Muecke R., Prott F., Huebner J. Use of complementary and alternative medicine by patients with cancer: A cross-sectional study at different points of cancer care. Med. Oncol. 2016;33:78. doi: 10.1007/s12032-016-0790-4. - DOI - PubMed
    1. Thoene J., Crooks G.M. Report of the National Commission on Orphan Diseases. Public Health Service, Office of the Assistant Secretary of Health; Washington, DC, USA: 1989.
    1. Avellaneda A., Izquierdo M., Torrent-Farnell J., Ramón J.R. Enfermedades raras: Enfermedades crónicas que requieren un nuevo enfoque sociosanitario. An. Sist. Sanit. Navar. 2007;30:177–190. doi: 10.4321/S1137-66272007000300002. - DOI - PubMed

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